AutismKB 2.0

Annotation Details for KIAA0947


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KIAA0947 ( DKFZp781J2344 )
Gene Full Name: KIAA0947
Band: 5p15.32
Quick LinksEntrez ID:23379; OMIM: NA; Uniprot ID:K0947_HUMAN; ENSEMBL ID: ENSG00000164151; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005654IDA-nucleoplasm-
GO:0005654TAS-nucleoplasm-
GO:0008023IDA-transcription elongation factor complex23932780
GO:0015030IDA-Cajal body22195968
GO:0016604IDA-nuclear body-
GO:0035327IDA-transcriptionally active chromatin22195968
GO:0035363IDA-histone locus body23932780
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding22195968
GO:0042803TAS-protein homodimerization activity23932780
GO ID Evidence Qualifier GO_term References
GO:0031334IMP-positive regulation of protein complex assembly23932780
GO:0042795IMP-snRNA transcription from RNA polymerase II promoter22195968
GO:0042795TAS-snRNA transcription from RNA polymerase II promoter-
GO:0042796IMP-snRNA transcription from RNA polymerase III promoter23932780
GO:0045945IMP-positive regulation of transcription from RNA polymerase III promoter23932780
GO:0090316IMP-positive regulation of intracellular protein transport23932780
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
KIAA0947USPL111695519615732 Affinity Capture-MS
KIAA0947USPL111550319615732 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2385865
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018